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一例双胎输血综合征中伴有 Peters 异常的供受双胎不一致:病例报告。

A donor twin discordant with Peters anomaly in a twin-twin transfusion syndrome case: a case report.

机构信息

Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan, Taiwan.

Department of Obstetrics and Gynecology, Cathay General Hospital, Hsinchu, Taiwan.

出版信息

BMC Pregnancy Childbirth. 2020 Sep 23;20(1):558. doi: 10.1186/s12884-020-03269-0.

Abstract

BACKGROUND

Peters anomaly is a rare form of anterior segment ocular dysgenesis, the antenatal image of Peters anomaly had not been reported. We herein showcased a discordant finding of Peters anomaly in a monozygotic twin complicated with twin-twin transfusion syndrome (TTTS) and exhibited its antenatal sonographic images, CASE PRESENTATION: A 38-year-old gravida 2 para 1 pregnant woman visited our clinic at the gestational age of 18 weeks where TTTS stage III was diagnosed and the following laser therapy was done successfully. Ten days after the surgery, the follow-up ultrasound detected the opacity of both fetal eyeballs in the donor twin and thus congenital cataract was suspected initially. Then magnetic resonance imaging (MRI) examination was arranged at the gestational age of 23 weeks, and no central nervous system or other anomaly was found. At the 29 weeks of gestation, the opacity of both fetal eyeballs of the donor twin did not clear. The pregnancy resulted in cesarean section at the gestational age of 37 weeks indicated by malpresentation where two male live births were born. Examination under anesthesia was arranged for donor twin after delivery and Peters anomaly was diagnosed based on central corneal opacity with iridocorneal and corneolenticular adhesions.

CONCLUSIONS

The prenatal image of Peters anomaly may present as the opacity of the fetal eyeballs similar to congenital cataract. Some cases of the Peters anomaly had been reported with a genetic abnormality, but since our case presented discordant presentation in monozygotic twin pregnancy where both twins are supposed to share the same genetic make-up, therefore other factors that are epigenetic may be held accountable. Nevertheless, a genetic origin of the anomaly in our case cannot be excluded.

摘要

背景

Peters 异常是一种罕见的眼前段眼发育不良,产前 Peters 异常的图像尚未报道。我们在此展示了一例伴有双胎输血综合征(TTTS)的单卵双胞胎中 Peters 异常的不一致发现,并展示了其产前超声图像。

病例介绍

一位 38 岁的孕妇,妊娠 2 产 1,就诊于我们的诊所,妊娠 18 周时诊断为 TTTS Ⅲ期,并成功进行了激光治疗。手术后 10 天,随访超声发现供体双胞胎的两个胎儿眼球混浊,最初怀疑先天性白内障。然后在妊娠 23 周安排了磁共振成像(MRI)检查,未发现中枢神经系统或其他异常。在妊娠 29 周时,供体双胞胎的两个胎儿眼球混浊仍未消退。由于胎位不正,妊娠 37 周时行剖宫产,分娩出两个男性活婴。分娩后为供体双胞胎安排了全身麻醉检查,根据中央角膜混浊伴虹膜角膜和角膜晶状体粘连,诊断为 Peters 异常。

结论

Peters 异常的产前图像可能表现为与先天性白内障相似的胎儿眼球混浊。一些 Peters 异常的病例与遗传异常有关,但由于我们的病例是在单卵双胞胎妊娠中表现出不一致的表现,而这对双胞胎应该具有相同的遗传构成,因此可能与表观遗传因素有关。然而,我们病例中的异常的遗传起源不能排除。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6049/7513296/7d140f2c3669/12884_2020_3269_Fig1_HTML.jpg

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